ClinVar Miner

List of variants in gene TTN reported as pathogenic by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter) rs1559446852

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